Alkaptonuria is a rare inborn metabolic disorder in which ochronotic pigment is deposited in connective tissue and cartilage. Ochronotic arthropathy is the consequence of longstanding alkaptonuria and leads to progressive joint disability. We report a case of a 67-year old man with severe ochronotic arthropathy involving the spine, the knees, the shoulders and the hips.
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Alkaptonuria (AKU) is an extremely rare autosomal recessive metabolic disorder caused by deficiency of homogentisic acid oxidase and resulting in accumulation of homogentisic acid in collagenous structures. It is characterized by a triad of homogentisic aciduria, bluish-black discoloration of connective tissues (ochronosis) and arthropathy of large weight bearing joints. We report on a middle-aged female patient with bilateral severe ochronotic arthritis of both hips and shoulder joints requiring total joint replacements as staged procedures which were done without complications offering a complete pain relief and a satisfactory clinical and functional outcome.
View Article and Find Full Text PDFOchronotic Arthropathy of the Shoulder - A Rare Case Report.
J Orthop Case Rep
January 2025
Department of Orthopaedics, Apollo Adlux Hospital, Angamali, Kochi, Kerala, 683576, India.
Introduction: Alkaptonuria is a metabolic disorder due to accumulation of homogentisic acid, leading to destruction of major joints. Very few cases of ochronosis with shoulder involvement have been reported in literature.
Case Report: We report a 31-year-old male who presented with shoulder pain for 4 months.
[Total hip arthroplasty secondary to ocronotic arthropathy. A case report].
Acta Ortop Mex
January 2025
Universidad Anáhuac Querétaro, México.
Introduction: alkaptonuria is a rare hereditary metabolic disorder which is characterized by deficiency of the enzyme homogentisate 1,2 dioxygenase, which is responsible for the oxidation and renal elimination of homogentisic acid (HGA), which causes its accumulation. The excessive accumulation of HGA results in ochronosis and ochronotic arthropathy, which mainly affects the thoracolumbar spine and the large joints, leading to the need for joint replacement seeking to improve function and quality of life.
Clinical Case: hereby is presented a 67-years-old female patient with history of alkaptonuria with diffuse painful right hip of 4 years of evolution.
Ochronotic Arthropathy and Alkaptonuria (Ochronosis): Case Report.
Rev Bras Ortop (Sao Paulo)
November 2024
Departamento de Ciências da Saúde, Centro de Ciências Biológicas e da Saúde (CCBS), Universidade Federal Rural do Semi-Árido (Ufersa), Mossoró, RN, Brasil.
Alkaptonuria (AKU) is a rare genetic condition resulting from a deficiency in the homogentisic acid oxidase enzyme, which is produced by the liver and kidneys, that interferes with the metabolism of the amino acids phenylalanine and tyrosine. Although it may not cause symptoms, AKU can lead to ochronosis, the abnormal accumulation in body tissues of a pigment called alkapton. Over time, this pigment accumulation in the joints may result in secondary osteoarthritis known as ochronotic arthropathy, the most debilitating form of the disease.
View Article and Find Full Text PDFNon-cemented Total Hip Arthroplasty in a Rare Case with Black Hip, A Case Report.
Adv Biomed Res
October 2024
Department of Orthopedic and Trauma Surgery, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran.
Alkaptonuria is a metabolic disorder characterized by homogentisic acid accumulation in connective tissue. Ochronotic arthropathy, a rare condition reported in alkaptonuria, mostly affects the knee joint. In this study we reported a 57-year-old male patient presented with bilateral hip pain.
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